Understanding the molecular basis of the mutation in the RNA polymerase III subunit Rpc10 (R41W)- associated with hypomyelinating leukodystrophy in the yeast homolog Rpc11.

Abstract excerpt

RNA Polymerase III (RNAP III) is crucial for synthesizing abundant non-coding RNAs like tRNAs and 5S rRNA. Its activity is tightly controlled, and disruptions often lead to severe diseases. Mutations in RNAP III subunits are linked to a range of human disorders, including hypomyelinating leukodystrophy (HLD). Among the various mutations identified in patients with HLD, the POLR3K (RPC10)-R41W mutation has drawn...

Topics

• RNA Polymerase III
• Humans
• Saccharomyces cerevisiae
• Saccharomyces cerevisiae Proteins
• Mutation
• Hereditary Central Nervous System Demyelinating Diseases
• Models, Molecular